Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 6 | 25957164 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 6 | 135144336 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 14 | 103356425 | regulatory region variant | C/G | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 135142809 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 22 | 37097138 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 22 | 37057216 | intron variant | G/T | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 22 | 37089684 | missense variant | T/C | snv | 0.38 | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 6 | 25488355 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 22 | 37032558 | upstream gene variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 22 | 37098774 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 12928470 | non coding transcript exon variant | A/G | snv | 0.65 | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 15 | 65547744 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 0.925 | 0.120 | 6 | 26088662 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 6 | 26135270 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 15 | 65513051 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 25617063 | intron variant | G/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 41908597 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.925 | 0.120 | 6 | 25843518 | intron variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1 | 39604267 | intergenic variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 7 | 100642568 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 22 | 32484598 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 22 | 37071230 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 22 | 32470947 | upstream gene variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 26135269 | intron variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2012 | 2012 |